DisGeNET - a database of gene-disease associations

SUCLA2, succinate-CoA ligase ADP-forming subunit beta, 8803

N. diseases: 136; N. variants: 8

Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908537

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.

23759946

2013

dbSNP:

rs121908538

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.

23759946

2013

dbSNP:

rs397515462

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.

23759946

2013

dbSNP:

rs121908537

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

17287286

2007

dbSNP:

rs121908537

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

17301081

2007

dbSNP:

rs121908538

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

17287286

2007

dbSNP:

rs121908538

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

17301081

2007

dbSNP:

rs397515462

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

17301081

2007

dbSNP:

rs397515462

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

17287286

2007

dbSNP:

rs121908537

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

15877282

2005

dbSNP:

rs121908538

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

15877282

2005

dbSNP:

rs397515462

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

15877282

2005

dbSNP:

rs121908537

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

CausalMutation

CLINVAR

dbSNP:

rs121908538

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

CausalMutation

CLINVAR

dbSNP:

rs397515462

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.800

CausalMutation

CLINVAR

dbSNP:

rs113994161

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555256440

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

CUI:	C2749864
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)

0.700

CausalMutation

CLINVAR